A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination
Wang, Anderson T., Kim, Taeho, Wagner, John E., Conti, Brooke A., Lach, Francis P., Huang, Athena L., Molina, Henrik, Sanborn, Erica M., Zierhut, Heather, Cornes, Belinda K., Abhyankar, Avinash, Sougnez, Carrie, Gabriel, Stacey B., Auerbach, Arleen D., Kowalczykowski, Stephen C., Smogorzewska, Agata
Published in Molecular cell (06.08.2015)
Published in Molecular cell (06.08.2015)
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Mutations of the SLX4 gene in Fanconi anemia
Smogorzewska, Agata, Kim, Yonghwan, Lach, Francis P, Desetty, Rohini, Hanenberg, Helmut, Auerbach, Arleen D
Published in Nature genetics (01.02.2011)
Published in Nature genetics (01.02.2011)
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Human GEN1 and the SLX4-Associated Nucleases MUS81 and SLX1 Are Essential for the Resolution of Replication-Induced Holliday Junctions
Garner, Elizabeth, Kim, Yonghwan, Lach, Francis P., Kottemann, Molly C., Smogorzewska, Agata
Published in Cell reports (Cambridge) (17.10.2013)
Published in Cell reports (Cambridge) (17.10.2013)
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Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4
Kim, Yonghwan, Spitz, Gabriella S., Veturi, Uma, Lach, Francis P., Auerbach, Arleen D., Smogorzewska, Agata
Published in Blood (03.01.2013)
Published in Blood (03.01.2013)
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Journal Article
Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links
Rickman, Kimberly A, Noonan, Raymond J, Lach, Francis P, Sridhar, Sunandini, Wang, Anderson T, Abhyankar, Avinash, Huang, Athena, Kelly, Michael, Auerbach, Arleen D, Smogorzewska, Agata
Published in Genes & development (01.06.2020)
Published in Genes & development (01.06.2020)
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Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia
Rickman, Kimberly A., Lach, Francis P., Abhyankar, Avinash, Donovan, Frank X., Sanborn, Erica M., Kennedy, Jennifer A., Sougnez, Carrie, Gabriel, Stacey B., Elemento, Olivier, Chandrasekharappa, Settara C., Schindler, Detlev, Auerbach, Arleen D., Smogorzewska, Agata
Published in Cell reports (Cambridge) (07.07.2015)
Published in Cell reports (Cambridge) (07.07.2015)
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A Genetic Screen Identifies FAN1, a Fanconi Anemia-Associated Nuclease Necessary for DNA Interstrand Crosslink Repair
Smogorzewska, Agata, Desetty, Rohini, Saito, Takamune T., Schlabach, Michael, Lach, Francis P., Sowa, Mathew E., Clark, Alan B., Kunkel, Thomas A., Harper, J. Wade, Colaiácovo, Monica P., Elledge, Stephen J.
Published in Molecular cell (09.07.2010)
Published in Molecular cell (09.07.2010)
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RTF2 controls replication repriming and ribonucleotide excision at the replisome
Conti, Brooke A., Ruiz, Penelope D., Broton, Cayla, Blobel, Nicolas J., Kottemann, Molly C., Sridhar, Sunandini, Lach, Francis P., Wiley, Tom F., Sasi, Nanda K., Carroll, Thomas, Smogorzewska, Agata
Published in Nature communications (02.03.2024)
Published in Nature communications (02.03.2024)
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Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Seal, Sheila, Barker, Karen, Ariffin, Hany, Rahman, Nazneen, Hanks, Sandra, Hanenberg, Helmut, Reid, Sarah, Freund, Marcel, Kelly, Patrick, Auerbach, Arleen D, Wurm, Melanie, Tischkowitz, Marc, Batish, Sat Dev, Mathew, Christopher G, Yetgin, Sevgi, Neveling, Kornelia, Lach, Francis P, Schindler, Detlev, Kalb, Reinhard, Neitzel, Heidemarie
Published in Nature genetics (01.02.2007)
Published in Nature genetics (01.02.2007)
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Transcriptional Silencing of ALDH2 Confers a Dependency on Fanconi Anemia Proteins in Acute Myeloid Leukemia
Yang, Zhaolin, Wu, Xiaoli S, Wei, Yiliang, Polyanskaya, Sofya A, Iyer, Shruti V, Jung, Moonjung, Lach, Francis P, Adelman, Emmalee R, Klingbeil, Olaf, Milazzo, Joseph P, Kramer, Melissa, Demerdash, Osama E, Chang, Kenneth, Goodwin, Sara, Hodges, Emily, McCombie, W Richard, Figueroa, Maria E, Smogorzewska, Agata, Vakoc, Christopher R
Published in Cancer discovery (01.09.2021)
Published in Cancer discovery (01.09.2021)
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Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia
Chandrasekharappa, Settara C., Lach, Francis P., Kimble, Danielle C., Kamat, Aparna, Teer, Jamie K., Donovan, Frank X., Flynn, Elizabeth, Sen, Shurjo K., Thongthip, Supawat, Sanborn, Erica, Smogorzewska, Agata, Auerbach, Arleen D., Ostrander, Elaine A., NISC Comparative Sequencing Program
Published in Blood (30.05.2013)
Published in Blood (30.05.2013)
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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations
Castella, Maria, Pujol, Roser, Callén, Elsa, Trujillo, Juan P., Casado, José A., Gille, Hans, Lach, Francis P., Auerbach, Arleen D., Schindler, Detlev, Benítez, Javier, Porto, Beatriz, Ferro, Teresa, Muñoz, Arturo, Sevilla, Julián, Madero, Luis, Cela, Elena, Beléndez, Cristina, de Heredia, Cristina Díaz, Olivé, Teresa, de Toledo, José Sánchez, Badell, Isabel, Torrent, Montserrat, Estella, Jesús, Dasí, Ángeles, Rodríguez-Villa, Antonia, Gómez, Pedro, Barbot, José, Tapia, María, Molinés, Antonio, Figuera, Ángela, Bueren, Juan A., Surrallés, Jordi
Published in Blood (07.04.2011)
Published in Blood (07.04.2011)
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A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype
Schultz-Rogers, Laura, Lach, Francis P, Rickman, Kimberly A, Ferrer, Alejandro, Mangaonkar, Abhishek A, Schwab, Tanya L, Schmitz, Christopher T, Clark, Karl J, Dsouza, Nikita R, Zimmermann, Michael T, Litzow, Mark, Jacobi, Nicole, Klee, Eric W, Smogorzewska, Agata, Patnaik, Mrinal M
Published in Haematologica (Roma) (01.04.2021)
Published in Haematologica (Roma) (01.04.2021)
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Assessment of SLX4 Mutations in Hereditary Breast Cancers
Shah, Sohela, Kim, Yonghwan, Ostrovnaya, Irina, Murali, Rajmohan, Schrader, Kasmintan A, Lach, Francis P, Sarrel, Kara, Rau-Murthy, Rohini, Hansen, Nichole, Zhang, Liyng, Kirchhoff, Tomas, Stadler, Zsofia, Robson, Mark, Vijai, Joseph, Offit, Kenneth, Smogorzewska, Agata
Published in PloS one (26.06.2013)
Published in PloS one (26.06.2013)
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Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes
Flynn, Elizabeth K., Kamat, Aparna, Lach, Francis P., Donovan, Frank X., Kimble, Danielle C., Narisu, Narisu, Sanborn, Erica, Boulad, Farid, Davies, Stella M., Gillio III, Alfred P., Harris, Richard E., MacMillan, Margaret L., Wagner, John E., Smogorzewska, Agata, Auerbach, Arleen D., Ostrander, Elaine A., Chandrasekharappa, Settara C.
Published in Human mutation (01.11.2014)
Published in Human mutation (01.11.2014)
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Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity
Kottemann, Molly C., Conti, Brooke A., Lach, Francis P., Smogorzewska, Agata
Published in Molecular cell (04.01.2018)
Published in Molecular cell (04.01.2018)
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The structure-specific endonuclease complex SLX4–XPF regulates Tus–Ter-induced homologous recombination
Elango, Rajula, Panday, Arvind, Lach, Francis P., Willis, Nicholas A., Nicholson, Kaitlin, Duffey, Erin E., Smogorzewska, Agata, Scully, Ralph
Published in Nature structural & molecular biology (01.08.2022)
Published in Nature structural & molecular biology (01.08.2022)
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Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group
Ali, Abdullah Mahmood, Kirby, Michelle, Jansen, Michael, Lach, Francis P., Schulte, Jennifer, Singh, Thiyam Ramsing, Batish, Sat D., Auerbach, Arleen D., Williams, David A., Meetei, Amom Ruhikanta
Published in Human mutation (01.07.2009)
Published in Human mutation (01.07.2009)
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Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
Cottineau, Julien, Kottemann, Molly C, Lach, Francis P, Kang, Young-Hoon, Vély, Frédéric, Deenick, Elissa K, Lazarov, Tomi, Gineau, Laure, Wang, Yi, Farina, Andrea, Chansel, Marie, Lorenzo, Lazaro, Piperoglou, Christelle, Ma, Cindy S, Nitschke, Patrick, Belkadi, Aziz, Itan, Yuval, Boisson, Bertrand, Jabot-Hanin, Fabienne, Picard, Capucine, Bustamante, Jacinta, Eidenschenk, Céline, Boucherit, Soraya, Aladjidi, Nathalie, Lacombe, Didier, Barat, Pascal, Qasim, Waseem, Hurst, Jane A, Pollard, Andrew J, Uhlig, Holm H, Fieschi, Claire, Michon, Jean, Bermudez, Vladimir P, Abel, Laurent, de Villartay, Jean-Pierre, Geissmann, Frédéric, Tangye, Stuart G, Hurwitz, Jerard, Vivier, Eric, Casanova, Jean-Laurent, Smogorzewska, Agata, Jouanguy, Emmanuelle
Published in The Journal of clinical investigation (01.05.2017)
Published in The Journal of clinical investigation (01.05.2017)
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